Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 9 2005 2011
dbSNP: rs121913535
rs121913535
KRAS
0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 9 2005 2014
dbSNP: rs770248150
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 9 2005 2016
dbSNP: rs104894364
rs104894364
KRAS
0.925 0.160 12 25227351 missense variant G/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 8 2006 2013
dbSNP: rs1057519725
rs1057519725
KRAS
0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 8 2005 2011
dbSNP: rs121913527
rs121913527
KRAS
0.807 0.320 12 25225628 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 8 2005 2011
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.080 0.875 8 2008 2016
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.880 1.000 8 2011 2019
dbSNP: rs193929331
rs193929331
KRAS
0.925 0.160 12 25245372 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 8 2007 2014
dbSNP: rs104894359
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 1.000 7 2006 2011
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.710 1.000 7 2006 2008
dbSNP: rs104894360
rs104894360
KRAS
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 1.000 7 2006 2008
dbSNP: rs104894364
rs104894364
KRAS
0.925 0.160 12 25227351 missense variant G/A snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 1.000 7 2006 2011
dbSNP: rs104894366
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 1.000 7 2006 2014
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.070 1.000 7 2012 2020
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.770 1.000 7 2011 2019
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.070 1.000 7 2011 2019
dbSNP: rs104894365
rs104894365
KRAS
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 6 2006 2011
dbSNP: rs104894366
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 6 2006 2014
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.060 1.000 6 2009 2016
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 1.000 6 2012 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 6 1987 2014
dbSNP: rs17851045
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 6 1987 2016
dbSNP: rs193929331
rs193929331
KRAS
0.925 0.160 12 25245372 missense variant T/C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 1.000 6 2006 2011
dbSNP: rs104894359
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012